原发性家族性脑钙化症的分子遗传学研究进展  

Research advances in molecular genetics of primary familial brain calcification

作　　者：卜维婷 刘小民[2] BU Weiting;LIU Xiaomin(School of Clinical Medicine,Weifang Medical University,Weifang,Shandong 261000,China;Department of Neurology,The First Affiliated Hospital of Shandong First Medical University(Shandong Provincial Qianfoshan Hospital),Jinan,Shandong 250014,China)

机构地区：[1]潍坊医学院临床医学院,山东潍坊261000 [2]山东第一医科大学第一附属医院(山东省千佛山医院)神经内科,山东济南250014

出　　处：《国际神经病学神经外科学杂志》2023年第5期94-98,共5页Journal of International Neurology and Neurosurgery

基　　金：山东省自然科学基金项目(ZR2021MH059);山东省重点研发计划项目(2015GGH318011)。

摘　　要：原发性家族性脑钙化症是一种罕见的具有临床和遗传异质性的神经变性疾病,其临床特点为双侧基底节区钙化。该病发病年龄范围广,临床表现复杂多样。目前该病已发现至少7种致病基因,包括SLC20A2基因、PDGFRB基因、PDGFB基因、XPR1基因、MYORG基因、JAM2基因和CMPK2基因,但具体发病机制仍不清。该文就近年来有关该病的分子遗传学研究进展进行了综述,以期有助于该病的鉴别与诊断。Primary familial brain calcification(PFBC)is a rare neurodegenerative disorder with clinical and genetic heterogeneity,and calcification of bilateral basal ganglia is the main clinical feature of this disease.PFBC has a wide range of age of onset and complex and diverse clinical manifestations.To date,at least seven pathogenic genes have been identified,i.e.,SLC20A2 gene,PDGFRB gene,PDGFB gene,XPR1 gene,MYORG gene,JAM2 gene,and CMPK2 gene,but the specific pathogenesis of this disease remains unclear.This article reviews the recent research advances in the molecular genetics of this disease,in order to provide a reference for the diagnosis and differential diagnosis of PFBC.

关 键 词：原发性家族性脑钙化症 基因 突变 发病机制 

分 类 号：R742[医药卫生—神经病学与精神病学]